MCID: DVL011
MIFTS: 11

Developmental Dysplasia of the Hip 2

Aliases & Classifications for Developmental Dysplasia of the Hip 2

MalaCards integrated aliases for Developmental Dysplasia of the Hip 2:

Name: Developmental Dysplasia of the Hip 2 57 73
Ddh2 57

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
one family reported (last curated january 2014)


HPO:

32
developmental dysplasia of the hip 2:
Inheritance autosomal dominant inheritance


External Ids:

OMIM 57 615612
MedGen 42 C3715079
SNOMED-CT via HPO 69 263681008 49218002
UMLS 73 C3715079

Summaries for Developmental Dysplasia of the Hip 2

OMIM : 57 Developmental dysplasia of the hip (DDH) is a debilitating condition characterized by incomplete formation of the acetabulum leading to dislocation of the femur, suboptimal joint function, and accelerated wear of the articular cartilage, resulting in arthritis. Undetected hip dysplasia is the leading cause of osteoarthritis of the hip in young individuals, causing over 40% of cases in that age group (summary by Feldman et al., 2013). For discussion of genetic heterogeneity of developmental dysplasia of the hip, see DDH1 (142700). (615612)

MalaCards based summary : Developmental Dysplasia of the Hip 2, also known as ddh2, is related to developmental dysplasia of the hip 1, and has symptoms including hip pain An important gene associated with Developmental Dysplasia of the Hip 2 is DDH2 (Developmental Dysplasia Of The Hip 2). Related phenotype is hip pain.

Related Diseases for Developmental Dysplasia of the Hip 2

Diseases related to Developmental Dysplasia of the Hip 2 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 developmental dysplasia of the hip 1 10.9

Symptoms & Phenotypes for Developmental Dysplasia of the Hip 2

Symptoms via clinical synopsis from OMIM:

57
Skeletal Pelvis:
hip pain
disruption of shenton line seen on x-ray
center-edge angle less than 20 degrees seen on x-ray
tonnis angle greater than 10 degrees seen on x-ray
extrusion distance between the edge of the femoral head and ilioischial line greater than 10 mm seen on x-ray
more

Clinical features from OMIM:

615612

Human phenotypes related to Developmental Dysplasia of the Hip 2:

32
# Description HPO Frequency HPO Source Accession
1 hip pain 32 HP:0030838

UMLS symptoms related to Developmental Dysplasia of the Hip 2:


hip pain

Drugs & Therapeutics for Developmental Dysplasia of the Hip 2

Search Clinical Trials , NIH Clinical Center for Developmental Dysplasia of the Hip 2

Genetic Tests for Developmental Dysplasia of the Hip 2

Anatomical Context for Developmental Dysplasia of the Hip 2

Publications for Developmental Dysplasia of the Hip 2

Variations for Developmental Dysplasia of the Hip 2

Expression for Developmental Dysplasia of the Hip 2

Search GEO for disease gene expression data for Developmental Dysplasia of the Hip 2.

Pathways for Developmental Dysplasia of the Hip 2

GO Terms for Developmental Dysplasia of the Hip 2

Sources for Developmental Dysplasia of the Hip 2

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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